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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Hhiptm1Amc
targeted mutation 1, Andrew P McMahon
MGI:2450891
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Hhiptm1Amc/Hhiptm1Amc involves: 129S1/Sv * 129X1/SvJ MGI:2675734
cx2
 		Hhiptm1Amc/Hhiptm1Amc
Ptch1tm1Mps/Ptch1+ 		involves: 129S1/Sv * 129X1/SvJ MGI:2675747
cx3
 		Hhiptm1Amc/Hhip+
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Mt1-Ptch1)MT22Mps/0 		involves: 129S1/Sv * 129X1/SvJ * FVB MGI:3617156
cx4
 		Hhiptm1Amc/Hhiptm1Amc
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Mt1-Ptch1)MT22Mps/0 		involves: 129S1/Sv * 129X1/SvJ * FVB MGI:3617157


Genotype
MGI:2675734
hm1
Allelic
Composition		 Hhiptm1Amc/Hhiptm1Amc
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hhiptm1Amc mutation (1 available); any Hhip mutation (44 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, complete penetrance ( J:81798 )
• homozygotes die in the first hours after birth due to respiratory failure

respiratory system
left pulmonary isomerism ( J:81798 )
• only one right lung lobe, corresponding to single left lung lobe
small lung ( J:81798 )
• lungs 1/4 to 1/3 normal size
abnormal pulmonary alveolar duct morphology ( J:81798 )
• failed branching pattern, lateral bulges appear at E11.5 but branching does not continue
• proximodistal patterning normal
• reduced airway space and increased number of mesenchymal cells
primary atelectasis ( J:81798 )
• lungs fail to inflate at birth
respiratory failure ( J:81798 )
• ultimate cause of death

nervous system
abnormal neural tube morphology ( J:94269 )
• normal neural tube
• small but significant expansion of ventral neuronal progenitors

digestive/alimentary system
abnormal stomach glandular epithelium morphology ( J:85472 )
• reduced in thickness while stomach mesenchyme increases

hematopoietic system
abnormal spleen morphology ( J:85472 )
• deformed at E18.5
small spleen ( J:85472 )
• reduced in mass at E18.5

immune system
abnormal spleen morphology ( J:85472 )
• deformed at E18.5
small spleen ( J:85472 )
• reduced in mass at E18.5

endocrine/exocrine glands
decreased pancreatic beta cell proliferation ( J:85472 )
• slight but significant decrease in proliferative activity of beta cells
abnormal pancreatic islet morphology ( J:85472 )
• disorganized and reduced in size, cross sectional area reduced 45%
abnormal pancreas development ( J:85472 )
• in severe cases, E18.5 dorsal and ventral pancreases fuse into a compact mass smaller in size than normal
• normal architecture of acinar cells
• ventral pancreas tissue, normally attached to the dorsal region of the duodenum, extends ventrally towards the mediolateral area of the duodenum
ectopic pancreas ( J:85472 )
• at E18.5, some mutants display ectopic pancreas formation with patches of pancreatic tissue incorporated into the duodenum

growth/size/body
left pulmonary isomerism ( J:81798 )
• only one right lung lobe, corresponding to single left lung lobe

embryo
abnormal neural tube morphology ( J:94269 )
• normal neural tube
• small but significant expansion of ventral neuronal progenitors

cellular
decreased pancreatic beta cell proliferation ( J:85472 )
• slight but significant decrease in proliferative activity of beta cells




Genotype
MGI:2675747
cx2
Allelic
Composition		 Hhiptm1Amc/Hhiptm1Amc
Ptch1tm1Mps/Ptch1+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hhiptm1Amc mutation (1 available); any Hhip mutation (44 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (115 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality, complete penetrance ( J:85472 )
• accelerated lethality before E13

growth/size/body
increased embryo size ( J:94269 )
• about 56% of embryos

respiratory system
small lung ( J:85472 )
• much smaller lungs
abnormal pulmonary alveolar duct morphology ( J:94269 )
• branching pattern defect much more severe

nervous system
abnormal neural tube morphology ( J:94269 )
• enlarged neural tube
• ventricular zone grossly normal
incomplete rostral neuropore closure ( J:94269 )
• normal sized embryos with "open brains"
• moderate overgrowth in some cases
increased neuronal precursor cell number ( J:94269 )
• general expansion of neuronal precursor populations

digestive/alimentary system

endocrine/exocrine glands
abnormal pancreas development ( J:85472 )
• at E12.5, pancreas morphogenesis and cell differentiation are severely impaired
abnormal branching involved in pancreas development ( J:85472 )
• impaired branching of pancreatic epithelium into surrounding mesenchyme
• pancreatic epithelium significantly reduced

embryo
increased embryo size ( J:94269 )
• about 56% of embryos
abnormal neural tube morphology ( J:94269 )
• enlarged neural tube
• ventricular zone grossly normal
incomplete rostral neuropore closure ( J:94269 )
• normal sized embryos with "open brains"
• moderate overgrowth in some cases




Genotype
MGI:3617156
cx3
Allelic
Composition		 Hhiptm1Amc/Hhip+
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Mt1-Ptch1)MT22Mps/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hhiptm1Amc mutation (1 available); any Hhip mutation (44 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (115 available)
Tg(Mt1-Ptch1)MT22Mps mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
spina bifida ( J:94269 )
• or exencephaly present
exencephaly ( J:94269 )
• or spina bifida present
abnormal neuronal precursor cell number ( J:94269 )
• ventral neuronal precursor population expanded considerably

craniofacial
small first pharyngeal arch ( J:94269 )
• hyperplastic first branchial arch

embryo
small first pharyngeal arch ( J:94269 )
• hyperplastic first branchial arch
spina bifida ( J:94269 )
• or exencephaly present




Genotype
MGI:3617157
cx4
Allelic
Composition		 Hhiptm1Amc/Hhiptm1Amc
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Mt1-Ptch1)MT22Mps/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hhiptm1Amc mutation (1 available); any Hhip mutation (44 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (115 available)
Tg(Mt1-Ptch1)MT22Mps mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

nervous system
abnormal neural tube morphology ( J:94269 )
• ventral neuronal precursor population expanded and dorsal precursors decreased
enlarged floor plate ( J:94269 )
• 3X size of controls
incomplete rostral neuropore closure ( J:94269 )
• brain entirely open
abnormal neuronal precursor cell number ( J:94269 )
• entral neuronal precursor population expanded and dorsal precursors decreased

craniofacial
enlarged first pharyngeal arch ( J:94269 )
• first branchial arch considerably enlarged

vision/eye

embryo
enlarged first pharyngeal arch ( J:94269 )
• first branchial arch considerably enlarged
abnormal neural tube morphology ( J:94269 )
• ventral neuronal precursor population expanded and dorsal precursors decreased
enlarged floor plate ( J:94269 )
• 3X size of controls
incomplete rostral neuropore closure ( J:94269 )
• brain entirely open




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory